Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass
spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of …

Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis,
iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been …

Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy
because organ damage starts in utero. We report the safety and efficacy results of in utero …

OBJECTIVES: Vitamin D is a pleiotropic hormone important for the proper functioning of multiple
organ systems. It has been hypothesized that vitamin D deficiency could contribute to or …

Background: Although pathogenic 22q11.2 deletions are an important cause of developmental
delays and lifelong disease burden, their variable and complex clinical expression …

Introduction: Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder of
oxidation of long chain fat, and can present as cardiomyopathy or fasting intolerance in the …

Dried blood spot (DBS) samples on filter paper are surging in popularity as a sampling and
storage vehicle for a wide range of clinical and pharmaceutical applications. For example, a …

PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to
the organelle by the peroxisome targeting signal 2 (PTS2). Mutations in PEX7 cause …

Mitochondrial fission and fusion are dynamic processes vital to mitochondrial quality control
and the maintenance of cellular respiration. In dividing mitochondria, membrane scission is …

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel
approach made possible by the collaboration of 154 laboratories in 49 countries. Methods…